Linked Data
ClinVar Variation Id:
1034174
ClinVar RCV Id:
RCV001336813
dbSNP Id:
rs767123465
ExAC:
11:17428439 C / T
gnomAD v2:
11-17428439-C-T
gnomAD v3:
11-17406892-C-T
gnomAD v4:
11-17406892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406892C>T , CM000673.2:g.17406892C>T | GRCh38 |
| NC_000011.9:g.17428439C>T , CM000673.1:g.17428439C>T | GRCh37 |
| NC_000011.8:g.17385015C>T | NCBI36 |
| NG_008867.1:g.75011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2727G>A | ||
| ENST00000529967.6:n.1497G>A | ||
| ENST00000532220.2:n.890G>A | ||
| ENST00000642611.2:n.3227G>A | ||
| ENST00000645004.2:n.657G>A | ||
| ENST00000682051.1:n.3174G>A | ||
| ENST00000682110.1:n.3227G>A | ||
| ENST00000682140.1:c.3155G>A | ENSP00000507829.1:p.Ser1052Asn | |
| ENST00000682185.1:n.4463G>A | ||
| ENST00000682204.1:c.*1296G>A | ENSP00000507094.1:n.*1296G>A | |
| ENST00000682215.1:n.3224G>A | ||
| ENST00000682288.1:c.*1589G>A | ENSP00000507506.1:n.*1589G>A | |
| ENST00000682442.1:n.3348G>A | ||
| ENST00000682528.1:n.3304G>A | ||
| ENST00000682673.1:n.3171G>A | ||
| ENST00000682805.1:n.3224G>A | ||
| ENST00000682965.1:c.3155G>A | ENSP00000508229.1:p.Ser1052Asn | |
| ENST00000683093.1:n.3326G>A | ||
| ENST00000683136.1:c.3155G>A | ENSP00000507768.1:p.Ser1052Asn | |
| ENST00000683153.1:n.3383G>A | ||
| ENST00000683365.1:n.3329G>A | ||
| ENST00000683377.1:n.3227G>A | ||
| ENST00000683456.1:c.*295G>A | ENSP00000508318.1:n.*295G>A | |
| ENST00000683522.1:n.3227G>A | ||
| ENST00000683562.1:c.*1327G>A | ENSP00000508265.1:n.*1327G>A | |
| ENST00000683693.1:n.3304G>A | ||
| ENST00000683725.1:c.3158G>A | ENSP00000507496.1:p.Ser1053Asn | |
| ENST00000684010.1:n.3222G>A | ||
| ENST00000684157.1:n.3227G>A | ||
| ENST00000684253.1:n.3130G>A | ||
| ENST00000684288.1:c.*1330G>A | ENSP00000507143.1:n.*1330G>A | |
| ENST00000684313.1:n.2659G>A | ||
| ENST00000684332.1:n.3300G>A | ||
| ENST00000684371.1:n.3333G>A | ||
| ENST00000684404.1:n.3270G>A | ||
| ENST00000684442.1:n.3227G>A | ||
| ENST00000684555.1:c.*1370G>A | ENSP00000507705.1:n.*1370G>A | |
| ENST00000684571.1:c.2999G>A | ENSP00000506935.1:p.Ser1000Asn | |
| ENST00000684593.1:c.*2863G>A | ENSP00000507005.1:n.*2863G>A | |
| ENST00000684711.1:c.*1554G>A | ENSP00000506841.1:n.*1554G>A | |
| ENST00000302539.9:c.3161G>A | ENSP00000303960.4:p.Ser1054Asn | |
| ENST00000389817.8:c.3158G>A MANE Select | ENSP00000374467.4:p.Ser1053Asn | |
| ENST00000642271.1:c.3155G>A | ENSP00000493749.1:p.Ser1052Asn | |
| ENST00000642579.1:c.1242G>A | ||
| ENST00000642611.1:n.3112G>A | ||
| ENST00000642902.1:c.2940G>A | ||
| ENST00000643260.1:c.3158G>A | ENSP00000494450.1:p.Ser1053Asn | |
| ENST00000643562.1:c.*1134G>A | ENSP00000496124.1:n.*1134G>A | |
| ENST00000643925.1:c.1282G>A | ||
| ENST00000644447.1:c.1514G>A | ENSP00000496282.1:p.Ser505Asn | |
| ENST00000644484.1:c.*1413G>A | ENSP00000493558.1:n.*1413G>A | |
| ENST00000644542.1:c.*2863G>A | ENSP00000495532.1:n.*2863G>A | |
| ENST00000644675.1:c.*1330G>A | ENSP00000494567.1:n.*1330G>A | |
| ENST00000644757.1:c.*1443G>A | ENSP00000495085.1:n.*1443G>A | |
| ENST00000644772.1:c.3224G>A | ENSP00000494321.1:p.Ser1075Asn | |
| ENST00000645004.1:n.297G>A | ||
| ENST00000645076.1:c.2357G>A | ||
| ENST00000645417.1:c.324G>A | ||
| ENST00000645744.1:c.*1422G>A | ENSP00000494564.1:n.*1422G>A | |
| ENST00000645760.1:c.3433G>A | ||
| ENST00000645884.1:c.*295G>A | ENSP00000495516.1:n.*295G>A | |
| ENST00000646003.1:c.*1114G>A | ENSP00000495259.1:n.*1114G>A | |
| ENST00000646207.1:c.*1625G>A | ENSP00000495025.1:n.*1625G>A | |
| ENST00000646276.1:c.*1431G>A | ENSP00000496070.1:n.*1431G>A | |
| ENST00000646592.1:c.2464G>A | ||
| ENST00000646902.1:c.3155G>A | ENSP00000494101.1:p.Ser1052Asn | |
| ENST00000646993.1:c.*1554G>A | ENSP00000493720.1:n.*1554G>A | |
| ENST00000647013.1:c.3164G>A | ENSP00000496741.1:n.3164G>A | |
| ENST00000647015.1:c.2909G>A | ENSP00000495389.1:p.Ser970Asn | |
| ENST00000647086.1:c.*2888G>A | ENSP00000493677.1:n.*2888G>A | |
| ENST00000647158.1:c.*1299G>A | ENSP00000495744.1:n.*1299G>A | |
| ENST00000302539.8:c.3161G>A | ENSP00000303960.4:p.Ser1054Asn | |
| ENST00000389817.7:c.3158G>A | ENSP00000374467.3:p.Ser1053Asn | |
| ENST00000524561.1:n.290G>A | ||
| ENST00000526921.5:n.842G>A | ||
| ENST00000527905.5:c.*34G>A | ENSP00000431653.1:n.*34G>A | |
| ENST00000529967.5:n.827G>A | ||
| NM_000352.4:c.3158G>A | NP_000343.2:p.Ser1053Asn | |
| NM_001287174.1:c.3161G>A | NP_001274103.1:p.Ser1054Asn | |
| XM_011520331.1:c.3158G>A | XP_011518633.1:p.Ser1053Asn | |
| XM_011520332.1:c.3161G>A | XP_011518634.1:p.Ser1054Asn | |
| XM_011520333.1:c.1658G>A | XP_011518635.1:p.Ser553Asn | |
| XR_930890.1:n.3224G>A | ||
| XR_930891.1:n.3224G>A | ||
| XR_930892.1:n.3124G>A | ||
| XR_930893.1:n.3121G>A | ||
| NM_001351295.1:c.3224G>A | NP_001338224.1:p.Ser1075Asn | |
| NM_001351296.1:c.3158G>A | NP_001338225.1:p.Ser1053Asn | |
| NM_001351297.1:c.3155G>A | NP_001338226.1:p.Ser1052Asn | |
| NR_147094.1:n.3307G>A | ||
| XM_017018197.2:c.3227G>A | XP_016873686.1:p.Ser1076Asn | |
| XM_017018199.1:c.3224G>A | XP_016873688.1:p.Ser1075Asn | |
| XM_017018201.2:c.3227G>A | XP_016873690.1:p.Ser1076Asn | |
| XM_017018202.1:c.1724G>A | XP_016873691.1:p.Ser575Asn | |
| XM_017018204.1:c.1115G>A | XP_016873693.1:p.Ser372Asn | |
| XM_024448668.1:c.1526G>A | XP_024304436.1:p.Ser509Asn | |
| XR_001747945.2:n.3299G>A | ||
| XR_001747946.2:n.3230G>A | ||
| XR_002957189.1:n.3379G>A | ||
| NM_000352.6:c.3158G>A MANE Select | NP_000343.2:p.Ser1053Asn | |
| NM_001287174.2:c.3161G>A | NP_001274103.1:p.Ser1054Asn | |
| NM_001351295.2:c.3224G>A | NP_001338224.1:p.Ser1075Asn | |
| NM_001351296.2:c.3158G>A | NP_001338225.1:p.Ser1053Asn | |
| NM_001351297.2:c.3155G>A | NP_001338226.1:p.Ser1052Asn | |
| NR_147094.2:n.3307G>A | ||
| NM_001287174.3:c.3161G>A | NP_001274103.1:p.Ser1054Asn |